{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658655549",
  "communityStandardTitle": [
    "NM_003000.3(SDHB):c.598_603delinsAGGTGA (p.Trp200ArgfsTer2)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TCACCT",
          "end": 17024017,
          "referenceAllele": "CCACCA",
          "start": 17024011
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17024012_17024017delinsTCACCT",
        "CM000663.2:g.17024012_17024017delinsTCACCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TCACCT",
          "end": 17350512,
          "referenceAllele": "CCACCA",
          "start": 17350506
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17350507_17350512delinsTCACCT",
        "CM000663.1:g.17350507_17350512delinsTCACCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TCACCT",
          "end": 17223099,
          "referenceAllele": "CCACCA",
          "start": 17223093
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17223094_17223099delinsTCACCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 35159,
          "referenceAllele": "TGGTGG",
          "start": 35153
        }
      ],
      "hgvs": [
        "NG_012340.1:g.35154_35159delinsAGGTGA",
        "LRG_316:g.35154_35159delinsAGGTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002378"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 765,
          "referenceAllele": "TGGTGG",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.3:c.427_432delinsAGGTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.2:p.Trp143ArgfsTer2",
        "hgvsWellDefined": "ENSP00000481376.2:p.[Trp144_Tyr159delinsAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer;Trp161_Val223delinsMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914106"
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 673,
          "referenceAllele": "TGGTGG",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.6:c.556_561delinsAGGTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.2:p.Trp186ArgfsTer2",
        "hgvsWellDefined": "ENSP00000480482.2:p.[Trp187_Tyr202delinsAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer;Trp204_Val266delinsMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914166"
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 616,
          "referenceAllele": "TGGTGG",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.8:c.598_603delinsAGGTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Trp200ArgfsTer2",
        "hgvsWellDefined": "ENSP00000364649.3:p.[Trp201_Tyr216delinsAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer;Trp218_Val280delinsMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751624",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.598_603delinsAGGTGA"
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.598_603delinsAGGTGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Trp200ArgfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Trp200ArgfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 754,
          "referenceAllele": "TGGTGG",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.7:c.598_603delinsAGGTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Trp200ArgfsTer2",
        "hgvsWellDefined": "ENSP00000364649.3:p.[Trp201_Tyr216delinsAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer;Trp218_Val280delinsMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247360"
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 537,
          "referenceAllele": "TGGTGG",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000485515.5:n.532_537delinsAGGTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324522"
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 610,
          "referenceAllele": "TGGTGG",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.5:c.556_561delinsAGGTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.1:p.Trp186ArgfsTer2",
        "hgvsWellDefined": "ENSP00000480482.1:p.Trp186_Gln200delinsArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328910"
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 754,
          "referenceAllele": "TGGTGG",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.2:c.598_603delinsAGGTGA",
        "LRG_316t1:c.598_603delinsAGGTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Trp200ArgfsTer2",
        "hgvsWellDefined": "NP_002991.2:p.[Trp201_Tyr216delinsAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer;Trp218_Val280delinsMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028281"
    },
    {
      "coordinates": [
        {
          "allele": "AGGTGA",
          "end": 616,
          "referenceAllele": "TGGTGG",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.3:c.598_603delinsAGGTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Trp200ArgfsTer2",
        "hgvsWellDefined": "NP_002991.2:p.[Trp201_Tyr216delinsAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer;Trp218_Val280delinsMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.598_603delinsAGGTGA"
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.598_603delinsAGGTGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Trp200ArgfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Trp200ArgfsTer2"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}